PanelApp (stage)
  1. Genes and Genomic Entities
  2. AKT2

AKT2

AKT serine/threonine kinase 2
OMIM: 164731, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Green AKT2 in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.17

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypoinsulinemic hypoglycemia with hemihypertrophy 240900

Green AKT2 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416
  • Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900
  • Diabetes mellitus, type II , MIM#125853

Green AKT2 in Overgrowth


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.12

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypoinsulinemic hypoglycemia with hemihypertrophy, MIM# 240900

Red AKT2 in Monogenic Diabetes


Level 2: Endocrine disorders
Version 0.134

Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    Phenotypes
    • Diabetes mellitus, type II, 125853

    Red AKT2 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • BabySeq Category C gene
    Phenotypes
    • Severe insulin resistance and diabetes mellitus

    Green AKT2 in Fetal anomalies


    Version 1.255

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Hypoinsulinemic hypoglycemia and body hemihypertrophy, MONDO:0009416
    • Hypoinsulinemic hypoglycemia with hemihypertrophy, OMIM:240900

    Red AKT2 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • BabySeq Category C gene
    • Expert Review Red
    Phenotypes
    • Severe insulin resistance and diabetes mellitus

    Green AKT2 in Transplant Co-Morbidity Superpanel


    Level 2: Screening
    Version 0.18

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Diabetes mellitus, type II, 125853
    • Severe insulin resistance, partial lipodystrophy and diabetes